Canonical Allele Identifier: CA368975498

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282624A>T (hg19) ; chr7:g.117642570A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642570A>T , CM000669.2:g.117642570A>T	GRCh38
NC_000007.13:g.117282624A>T , CM000669.1:g.117282624A>T	GRCh37
NC_000007.12:g.117069860A>T	NCBI36
NG_016465.4:g.181787A>T , LRG_663:g.181787A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*59A>T	ENSP00000497673.2:n.*59A>T
ENST00000647978.2:c.*3564A>T	ENSP00000497658.1:n.*3564A>T
ENST00000649781.2:c.3667A>T	ENSP00000497203.1:p.Lys1223Ter
ENST00000685018.2:c.3850A>T	ENSP00000510194.2:p.Lys1284Ter
ENST00000687278.2:c.*503A>T	ENSP00000509593.2:n.*503A>T
ENST00000699585.1:c.*59A>T	ENSP00000514456.1:n.*59A>T
ENST00000699598.1:c.3850A>T	ENSP00000514467.1:p.Lys1284Ter
ENST00000699599.1:c.3850A>T	ENSP00000514468.1:p.Lys1284Ter
ENST00000699600.1:c.*511A>T	ENSP00000514469.1:n.*511A>T
ENST00000699601.1:c.*2225A>T	ENSP00000514470.1:n.*2225A>T
ENST00000699602.1:c.3844A>T	ENSP00000514471.1:p.Lys1282Ter
ENST00000699604.1:c.*3674A>T	ENSP00000514472.1:n.*3674A>T
ENST00000699605.1:c.3424A>T	ENSP00000514473.1:p.Lys1142Ter
ENST00000685018.1:c.598A>T	ENSP00000510194.1:p.Lys200Ter
ENST00000687278.1:c.1637A>T	ENSP00000509593.1:n.1637A>T
ENST00000689011.1:c.432A>T
ENST00000003084.11:c.3850A>T MANE Select	ENSP00000003084.6:p.Lys1284Ter
ENST00000647720.1:c.1300A>T
ENST00000649781.1:c.3667A>T	ENSP00000497203.1:p.Lys1223Ter
ENST00000003084.10:c.3850A>T	ENSP00000003084.6:p.Lys1284Ter
ENST00000426809.5:c.3760A>T	ENSP00000389119.1:p.Lys1254Ter
NM_000492.3:c.3850A>T , LRG_663t1:c.3850A>T	NP_000483.3:p.Lys1284Ter
XM_011515751.1:c.3940A>T	XP_011514053.1:p.Lys1314Ter
XM_011515752.1:c.3940A>T	XP_011514054.1:p.Lys1314Ter
XM_011515753.1:c.3607A>T	XP_011514055.1:p.Lys1203Ter
XM_011515754.1:c.3607A>T	XP_011514056.1:p.Lys1203Ter
NM_000492.4:c.3850A>T MANE Select	NP_000483.3:p.Lys1284Ter